PMID- 19717539
OWN - NLM
STAT- MEDLINE
DCOM- 20101012
LR  - 20220129
IS  - 1943-4456 (Electronic)
IS  - 0091-7451 (Print)
IS  - 0091-7451 (Linking)
VI  - 74
DP  - 2009
TI  - The evolution of human segmental duplications and the core duplicon hypothesis.
PG  - 355-62
LID - 10.1101/sqb.2009.74.011 [doi]
AB  - Duplicated sequences are important sources of genetic instability and in the 
      evolution of new gene function within species. Hominids have a preponderance of 
      intrachromosomal duplications organized in an interspersed fashion, as opposed to 
      tandem duplications, which are common in other mammalian genomes such as mouse, 
      dog, and cow. Multiple lines of evidence, including sequence divergence, 
      comparative primate genomes, and fluorescence in situ hybridization (FISH) 
      analyses, point to an excess of segmental duplications in the common ancestor of 
      humans and African great apes. We find that much of the interspersed human 
      duplication architecture within chromosomes is focused around common sequence 
      elements referred to as "core duplicons." These cores correspond to the expansion 
      of gene families, some of which show signatures of positive selection and lack 
      orthologs present in other mammalian species. This genomic architecture 
      predisposes apes and humans not only to extensive genetic diversity, but also to 
      large-scale structural diversity mediated by nonallelic homologous recombination. 
      In humans, many de novo large-scale genomic changes mediated by these 
      duplications are associated with neuropsychiatric and neurodevelopmental disease. 
      We propose that the disadvantage of a high rate of new mutations is offset by the 
      selective advantage of newly minted genes within the cores.
FAU - Marques-Bonet, T
AU  - Marques-Bonet T
AD  - Department of Genome Sciences, University of Washington, Seattle, Washington 
      98195, USA.
FAU - Eichler, E E
AU  - Eichler EE
LA  - eng
GR  - R01 GM058815/GM/NIGMS NIH HHS/United States
GR  - GM058815/GM/NIGMS NIH HHS/United States
GR  - HG002385/HG/NHGRI NIH HHS/United States
GR  - R01 HG002385/HG/NHGRI NIH HHS/United States
GR  - HHMI/Howard Hughes Medical Institute/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Review
DEP - 20090828
PL  - United States
TA  - Cold Spring Harb Symp Quant Biol
JT  - Cold Spring Harbor symposia on quantitative biology
JID - 1256107
SB  - IM
MH  - Animals
MH  - Cattle
MH  - DNA Copy Number Variations
MH  - Dogs
MH  - *Evolution, Molecular
MH  - Humans
MH  - Mice
MH  - *Models, Genetic
MH  - Phylogeny
MH  - Primates/genetics
MH  - *Segmental Duplications, Genomic
MH  - Species Specificity
PMC - PMC4114149
MID - NIHMS604828
EDAT- 2009/09/01 06:00
MHDA- 2010/10/13 06:00
PMCR- 2014/07/29
CRDT- 2009/09/01 09:00
PHST- 2009/09/01 09:00 [entrez]
PHST- 2009/09/01 06:00 [pubmed]
PHST- 2010/10/13 06:00 [medline]
PHST- 2014/07/29 00:00 [pmc-release]
AID - sqb.2009.74.011 [pii]
AID - 10.1101/sqb.2009.74.011 [doi]
PST - ppublish
SO  - Cold Spring Harb Symp Quant Biol. 2009;74:355-62. doi: 10.1101/sqb.2009.74.011. 
      Epub 2009 Aug 28.